Research Areas

Many of us here at Genzyme can put faces to the diseases we are working on. For most of us, research is more than just an interesting job—it's a personal quest.
”

— Johanne KaplanV.P. of Neuroimmunology Research

For every product Genzyme launches, every treatment we pursue, the starting point is a significant medical need. We orient our research around therapeutic areas where breakthrough therapies can significantly improve patients' lives.

A Focus on Clinical Needs

Genzyme's R&D efforts span a range of clinical needs. Often our research centers on rare, or orphan, diseases that get little attention elsewhere. Other times it's in more widely studied medical areas, but focused on a specific niche or novel treatment approach.

We have particularly strong research programs in the medical areas that correspond with our business units – rare diseases and neuroimmunological disorders such as multiple sclerosis. We are on the forefront of solving medical challenges within these therapeutic areas. For example, most medicines that treat lysosomal storage disorders (LSDs) are infusions that can’t treat the iterations of these diseases that affect the central nervous system (CNS). Our scientists are currently investigating a small molecule for Fabry disease that has the potential to reach the CNS. If successful, this approach could be used with other diseases and could revolutionize the treatment of neuropathic LSDs for a group of patients who had no treatment options.

Within neuroimmunology, we are already starting on next-generation MS treatments. Our goal is to find treatments that not only stop disease progression but also repair the damaged immune system, and we are researching a variety of technology platforms – including small molecules and antibodies – to accomplish this goal.

We also pursue promising research outside our defined areas of focus; these product candidates may eventually be commercialized by another part of Sanofi.

Many diseases have a genetic component, but those defined as genetic diseases are directly caused by a specific gene abnormality. Genetic diseases are usually passed down from parent to child. The class of genetic diseases is broad and includes disorders that affect every bodily system. Some of these are extremely rare and may not be widely studied.

Genzyme's groundbreaking research in enzyme replacement therapy (ERT) for the rare genetic diseases known as lysosomal storage disorders (LSDs) was the foundation of our business. Today, we are still widely recognized as a global leader in LSD research and have expanded our research from protein-based ERT to include small molecule drugs and gene therapies. We're also applying our experience toward the study of other genetic diseases, including cystic fibrosis.

Neurologic diseases are a broad category of disorders with varying underlying causes that affect the brain, spinal cord, and/or other nerve areas in the body, including the eye. Because the central nervous system is vital in controlling many critical bodily functions, neurologic disorders can be particularly debilitating and often fatal.

Neurologic disease has long been an area of interest for Genzyme, since many of the lysosomal storage disorders (LSDs) – the genetic diseases that were our earliest focus and target of our first products – have neurologic manifestations. Although our enzyme replacement therapies are highly effective at treating many other symptoms of LSDs, they are not effective at addressing the neurologic manifestations. Thus Genzyme is researching alternative therapeutic strategies for LSDs, including industry-leading work in gene therapy and substrate reduction therapies (SRT). In addition, we have research programs in several neurodegenerative disorders, such as Parkinson's, spinal muscular atrophy, Huntington’s disease, and age-related macular degeneration.

Neuroimmunology research addresses neurological disorders with an immunological component. The primary focus has been on multiple sclerosis (MS), a chronic inflammatory disease of the central nervous system (CNS) characterized by the progressive development of disability. In individuals with MS, autoreactive lymphocytes attack the myelin sheath which insulates the axons that are responsible for communicating electrical impulses between neurons. As a result, lesions or areas of demyelination accumulate in the CNS over time, leading to an increase in debilitating symptoms. Recent exciting advances include the successful completion of clinical trials with a monoclonal antibody (alemtuzumab), as well as U.S. regulatory approval of an oral small molecule therapy (teriflunomide). Current research efforts aim to develop agents that could provide neuroprotection against immunological damage and promote remyelination of neurons (neural repair). Such approaches may have applicability to other inflammatory neurological disorders such as neuromyelitis optica (NMO) or chronic inflammatory demyelinating polyneuropathy (CIDP).

Immune-mediated disease (IMD) research is focused on the discovery of therapeutics that modulate the immune system, thus addressing a variety of diseases that result from unwanted immune function including autoimmunity and organ transplant rejection. Autoimmunity results when the immune system that normally protects the host from infection goes awry and results in the destruction of normal host cells and tissues. The significant unmet medical need represented by select autoimmune conditions represents a growing area of interest for Genzyme, including diseases such as vasculitis, juvenile onset/type I diabetes, inflammatory bowel disease, and systemic lupus erythematosis. We conducted significant research for a leading immunosuppressant antibody therapeutic, now in the Sanofi portfolio, that improves the success of organ transplants by discouraging the host’s immune system from treating the donor organ as a foreign invader.

Recent advances in immunology are teaching us that there are common mechanistic threads based on immune effector cell functions that weave the broad class of IMDs together. Our growing molecular understanding of destructive immune mechanisms suggests key target point, or “Achilles heel,” opportunities for intervention. We are currently investigating novel antibodies and small molecule drugs which hold promise for selective intervention via these key target points.

Cardiovascular disease is a broad term encompassing many diseases affecting the heart and/or blood vessels. As a leading cause of death around the world, cardiovascular disease has naturally been the subject of extensive research.

Our research in this area focuses on specific niches where we can make a meaningful contribution. For instance, our work in lipid (cholesterol) lowering drugs in collaboration with ISIS Pharmaceuticals targets particularly difficult-to-treat forms of hypercholesterolemia (high cholesterol), including genetic forms of the disease that often don't respond to traditional therapies. Our other areas of cardiovascular research include evaluating therapeutic approaches to treating severe myocardial infarction.

Renal disease – failure of the kidneys to function properly and remove waste substances from the blood – is a serious condition that can be life-threatening. Chronic kidney disease (CKD) is a long-term, ongoing degenerative process. It is often caused by an underlying medical condition such as diabetes or high blood pressure that gradually damages the kidneys. Without effective treatments, CKD ultimately leads to end-stage renal disease (ESRD), requiring dialysis (mechanical "cleaning" of the blood when the kidneys cannot) and/or kidney transplant.

CKD and ESRD have been the primary focus of Genzyme's renal research, including therapies to complement dialysis. These include polymer-based phosphate binders – drugs to remove phosphate before it accumulates in the blood. We are also investigating novel therapeutic approaches for the treatment of progressive kidney fibrosis that can occur following acute injury or can be associated with genetic diseases like Alport’s disease or metabolic disorders such as diabetes. Additionally, we are developing therapeutic treatments for polycystic kidney disease and mechanistically related diseases. Finally, recognizing the interrelationship between kidney and bone biology, we are investigating novel therapeutic treatments for rare bone diseases.

Orthopedics relates to problems of the musculoskeletal system – ranging from broken bones and skeletal deformities to damaged or injured cartilage, ligaments, and tendons.

While orthopedic conditions are often treated surgically, Genzyme has long been a leader in innovative biologic therapies that offer alternatives to traditional surgery. Our pioneering research into cell therapy resulted in the first marketed product for growing a patient's own cartilage cells in culture to replace damaged knee cartilage. The market-leading lubricant injectable to help relieve knee pain associated with osteoarthritis, a product now in the Sanofi portfolio, emerged from some of our earliest work in biomaterials – research that continues to yield new applications.

Key conditions studied:

osteoarthritis; cartilage injury/defects

Most relevant technology platforms:

biomaterials; cell therapies; small molecules

A Robust Pipeline of Therapeutic Possibilities

From discovery projects in cystic fibrosis and lupus, to a clinical program for a potential enzyme replacement therapy for Niemann-Pick, to promising phase 3 results for a novel oral therapeutic candidate for Gaucher disease – plus much more – our research pipeline demonstrates our abilities to address a range of medical problems.

Our research programs originate from many sources. We continue to build on work in our established therapeutic areas. For example, we pioneered enzyme replacement therapies for lysosomal storage disorders, and today we're investigating small molecule drugs and even gene therapy for those rare genetic disorders. Wherever feasible, we also explore expanding the indications of our existing products, which can lead to potential therapies in an entirely different disease area. For example, our former leukemia antibody product which is now in the Sanofi portfolio, has shown strong clinical study data as a treatment for multiple sclerosis.

Research inspiration can also be as personal as a single scientist's firsthand experience with the effects of a particular disease. We don't limit ourselves to a set list of medical areas, and we're always willing to venture in new directions. At Genzyme, an innovative spirit encourages our researchers to pursue many avenues – while an integrative approach that brings together medical, clinical, regulatory, and commercial experts from throughout the company helps focus our efforts on a realistic end goal.

Applying Innovative Technologies

Our expertise in a variety of medical technology platforms gives us flexibility to find the best possible therapeutic format for the medical challenges we tackle within our research areas.